Table 1.

Summary of the clinical and mutational analysis of RDEB patients.

Patient ID	Patient Age	Allele 1 / Allele 2	Mutation Location	Consequences	Clinical Diagnosis
1	24	G2517KfsX3 / G2517KfsX3	TH / TH	PTC / PTC	RDEB-sev,gen
2	6	c.356_357delCA/ c.356_357delCA	CMP / CMP	PTC / PTC	RDEB-sev,gen
3	10	c.356_357delCA / c.356_357delCA	CMP / CMP	PTC / PTC	RDEB-sev,gen
4	27	c.4172dupC / c.4182-4188dup7	TH / TH	PTC/ PTC	RDEB-sev,gen
5	25	c.5048-5051dup4 / c.6501G-A	TH / TH	PTC / In-frame Del	RDEB-sev,gen
6	24	c.2993-5_3007dup20 / IVS64+4A>G	Fn3 / TH	PTC / Spl	RDEB-sev,gen
7	36	c.2993-5_3007dup20 / IVS64+4A>G	Fn3 / TH	PTC / Spl	RDEB-sev,gen
8	11	R578X / R578X	Fn3 / Fn3	PTC / PTC	RDEB-sev,gen
9	5	P1523HfsX187 / IVS85-1G>T	TH / TH	PTC / Spl	RDEB-sev,gen
10	3	R613X / R1683X	Fn3 / TH	PTC/ PTC	RDEB-sev,gen
11	34	c.7787delG / c.7787delG	TH / TH	PTC / PTC	RDEB-sev,gen
12	27	IVS17-2delA/ R2814X	Fn3 / Acidic	Spl / PTC	RDEB-sev,gen
13	22	R236X /IVS85-1G>A	Fn3 / TH	PTC / Spl	RDEB-sen,gen
14	37	R2069C / 6501 G-A	TH / TH	Mis / In-frame Del	RDEB-I
15	23	R578X / G1907D	Fn3 / TH	PTC / Mis	RDEB-I
16	28	IVS66+1 G>C / G2719A	TH / TH	PTC / Mis	RDEB-I
17	62	R2069C / IVS5+1G>A	TH / CMP	Mis / PTC	RDEB-I
18	11	G1907D / c.6311_6312delCT	TH / TH	Mis / PTC	RDEB-I
19	38	G1907D / R1933X	TH / TH	Mis / PTC	RDEB-I
20	4	c.4919delG / G2366V	TH / TH	PTC / Mis	RDEB-O
21	45	c.3582-3583delAG / G1782R	VWA / TH	PTC / Mis	RDEB-O
22	31	G2233S / IVS64-2_-1delAG	TH / TH	Mis / Spl	RDEB-O

Abbreviations: TH, triple helical domain; CMP, cartilage matrix protein; VWA, A domain of von Willebrand factor (VWF-A); Fn3, fibronectin type III-like repeats; PTC, premature termination codon; Spl, splicing, Mis, missense; RDEB-sev, gen, RDEB, severe, generalized (formally Hallopeau-Simens RDEB); RDEB-O, RDEB, generalized, other (formerly Non-Hallopeau-Simens RDEB); RDEB-I, inversa type of RDEB. Newly identified mutations are bolded.